ClinVar for Gene (Select 83943) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341113	NC_000007.14:g.111452717_111643842del	LOC129999132, IMMP2L +3 more	Deletion	not provided	GUncertain significance
Select item 3292102	NM_001099658.2(LRRN3):c.1697C>T (p.Ala566Val)	IMMP2L, LRRN3 (A566V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285951	NM_032549.4(IMMP2L):c.311T>C (p.Ile104Thr)	IMMP2L (I104T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285950	NM_032549.4(IMMP2L):c.295G>A (p.Asp99Asn)	IMMP2L (D127N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121182	NM_001099658.2(LRRN3):c.691G>A (p.Ala231Thr)	IMMP2L, LRRN3 (A231T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121181	NM_001099658.2(LRRN3):c.2020G>T (p.Gly674Cys)	IMMP2L, LRRN3 (G674C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121180	NM_001099658.2(LRRN3):c.2014G>C (p.Ala672Pro)	IMMP2L, LRRN3 (A672P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121179	NM_001099658.2(LRRN3):c.1802A>T (p.Lys601Ile)	IMMP2L, LRRN3 (K601I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121178	NM_001099658.2(LRRN3):c.1709G>A (p.Arg570Gln)	IMMP2L, LRRN3 (R570Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121177	NM_001099658.2(LRRN3):c.1228G>A (p.Val410Met)	IMMP2L, LRRN3 (V410M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121176	NM_001099658.2(LRRN3):c.1222C>T (p.Arg408Trp)	IMMP2L, LRRN3 (R408W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121175	NM_001099658.2(LRRN3):c.1061T>C (p.Ile354Thr)	IMMP2L, LRRN3 (I354T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109525	NM_032549.4(IMMP2L):c.453G>T (p.Trp151Cys)	IMMP2L (W179C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109524	NM_032549.4(IMMP2L):c.328T>C (p.Tyr110His)	IMMP2L (Y110H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109523	NM_032549.4(IMMP2L):c.172G>A (p.Val58Met)	IMMP2L (V58M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042696	NM_032549.4(IMMP2L):c.335A>G (p.Lys112Arg)	IMMP2L (K112R +1 more)	Single nucleotide variant (missense variant +1 more)	IMMP2L-related disorder	GBenign
Select item 3037725	NM_032549.4(IMMP2L):c.305+443A>C	IMMP2L	Single nucleotide variant (3 prime UTR variant +1 more)	IMMP2L-related disorder	GLikely benign
Select item 2685262	GRCh37/hg19 7q31.1-31.2(chr7:108967155-116850770)x1	TES, TFEC +20 more	Copy number loss	not provided	GPathogenic
Select item 2684503	GRCh37/hg19 7q31.1(chr7:107981349-110641907)x3	DNAJB9, IMMP2L +4 more	Copy number gain	not provided	GUncertain significance
Select item 2612044	NM_001099658.2(LRRN3):c.1243A>G (p.Met415Val)	IMMP2L, LRRN3 (M415V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605096	NM_001099658.2(LRRN3):c.781A>C (p.Asn261His)	IMMP2L, LRRN3 (N261H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548260	NM_001099658.2(LRRN3):c.1090A>G (p.Ser364Gly)	IMMP2L, LRRN3 (S364G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528268	NM_001099658.2(LRRN3):c.2075C>A (p.Thr692Lys)	IMMP2L, LRRN3 (T692K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527595	NM_032549.4(IMMP2L):c.104G>T (p.Cys35Phe)	IMMP2L (C35F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524316	NM_001099658.2(LRRN3):c.1304A>C (p.Glu435Ala)	IMMP2L, LRRN3 (E435A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521038	NM_001099658.2(LRRN3):c.1976A>G (p.His659Arg)	IMMP2L, LRRN3 (H659R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510369	NM_032549.4(IMMP2L):c.484G>C (p.Val162Leu)	IMMP2L (V162L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480580	NM_032549.4(IMMP2L):c.353T>C (p.Ile118Thr)	IMMP2L (I146T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478586	NM_001099658.2(LRRN3):c.1484C>T (p.Thr495Ile)	IMMP2L, LRRN3 (T495I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460099	NM_001099658.2(LRRN3):c.1898T>G (p.Leu633Arg)	IMMP2L, LRRN3 (L633R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455986	NM_001099658.2(LRRN3):c.476C>G (p.Ala159Gly)	IMMP2L, LRRN3 (A159G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395160	NM_001099658.2(LRRN3):c.827G>A (p.Arg276Gln)	IMMP2L, LRRN3 (R276Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388921	NM_001099658.2(LRRN3):c.1510G>A (p.Ala504Thr)	IMMP2L, LRRN3 (A504T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385253	NM_001099658.2(LRRN3):c.7G>T (p.Asp3Tyr)	IMMP2L, LRRN3 (D3Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359640	NM_001099658.2(LRRN3):c.265G>A (p.Asp89Asn)	IMMP2L, LRRN3 (D89N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336408	NM_001099658.2(LRRN3):c.1529T>C (p.Met510Thr)	IMMP2L, LRRN3 (M510T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331263	NM_032549.4(IMMP2L):c.109G>A (p.Ala37Thr)	IMMP2L (A37T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324742	NM_001099658.2(LRRN3):c.91C>T (p.Arg31Trp)	IMMP2L, LRRN3 (R31W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324183	NM_001099658.2(LRRN3):c.1853A>C (p.Gln618Pro)	IMMP2L, LRRN3 (Q618P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318246	NM_001099658.2(LRRN3):c.862G>C (p.Glu288Gln)	IMMP2L, LRRN3 (E288Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312898	NM_001099658.2(LRRN3):c.1594A>C (p.Ile532Leu)	IMMP2L, LRRN3 (I532L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288227	NM_001099658.2(LRRN3):c.1199C>A (p.Pro400His)	IMMP2L, LRRN3 (P400H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265610	NM_032549.4(IMMP2L):c.367G>T (p.Asp123Tyr)	IMMP2L (D151Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257866	NM_001099658.2(LRRN3):c.328A>G (p.Ile110Val)	IMMP2L, LRRN3 (I110V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257681	NM_032549.4(IMMP2L):c.322A>G (p.Asn108Asp)	IMMP2L (N108D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255814	NM_032549.4(IMMP2L):c.53G>C (p.Gly18Ala)	IMMP2L (G18A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247463	NM_001099658.2(LRRN3):c.2036C>A (p.Pro679His)	IMMP2L, LRRN3 (P679H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222726	NM_001099658.2(LRRN3):c.1358A>T (p.Glu453Val)	IMMP2L, LRRN3 (E453V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222697	NM_032549.4(IMMP2L):c.344G>A (p.Arg115His)	IMMP2L (R143H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222571	NM_001099658.2(LRRN3):c.13C>A (p.Pro5Thr)	IMMP2L, LRRN3 (P5T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1810319	GRCh37/hg19 7q31.1(chr7:111138678-111202263)x1	IMMP2L	Copy number loss	not provided	Gnot provided
Select item 1809448	GRCh37/hg19 7q31.1(chr7:111168726-111653169)x1	DOCK4, IMMP2L	Copy number loss	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1339883	GRCh37/hg19 7q31.1(chr7:111051119-111197513)x1	IMMP2L	Copy number loss	not provided	Gnot provided
Select item 979639	GRCh37/hg19 7q31.1(chr7:109241451-110894338)x3	LRRN3, IMMP2L	Copy number gain	not provided	GUncertain significance
Select item 815020	GRCh37/hg19 7q31.1(chr7:110423429-110719583)x1	IMMP2L	Copy number loss	not provided	GUncertain significance
Select item 815019	GRCh37/hg19 7q31.1(chr7:110234288-110329175)x1	IMMP2L	Copy number loss	not provided	GUncertain significance
Select item 815018	GRCh37/hg19 7q31.1(chr7:109594999-113885203)x3	LSMEM1, BMT2 +9 more	Copy number gain	not provided	GLikely pathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 815014	GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1	TMEM168, LAMB4 +59 more	Copy number loss	not provided	GPathogenic
Select item 788359	NM_001099658.2(LRRN3):c.675A>G (p.Thr225=)	LRRN3, IMMP2L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 778353	NM_001099658.2(LRRN3):c.92G>A (p.Arg31Gln)	IMMP2L, LRRN3 (R31Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 776255	NM_001099658.2(LRRN3):c.1131T>C (p.Arg377=)	IMMP2L, LRRN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 776254	NM_001099658.2(LRRN3):c.900C>T (p.Ile300=)	IMMP2L, LRRN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 768194	NM_032549.4(IMMP2L):c.36C>T (p.Ile12=)	IMMP2L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716956	NM_032549.4(IMMP2L):c.343C>T (p.Arg115Cys)	IMMP2L (R143C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 715235	NM_032549.4(IMMP2L):c.66G>A (p.Ala22=)	IMMP2L	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 689221	GRCh37/hg19 7q31.1(chr7:110468987-110810118)x1	IMMP2L, LRRN3	Copy number loss	not provided	GUncertain significance
Select item 689016	GRCh37/hg19 7q31.1(chr7:109939104-113649529)x1	BMT2, DOCK4 +8 more	Copy number loss	not provided	GUncertain significance
Select item 688788	GRCh37/hg19 7q31.1(chr7:110585546-110616789)x1	IMMP2L	Copy number loss	not provided	GUncertain significance
Select item 688622	GRCh37/hg19 7q31.1(chr7:111053988-111200668)x1	IMMP2L	Copy number loss	not provided	GUncertain significance
Select item 688447	GRCh37/hg19 7q31.1(chr7:111053988-111197390)x1	IMMP2L	Copy number loss	not provided	GUncertain significance
Select item 688259	GRCh37/hg19 7q31.1(chr7:111188513-111395987)x1	DOCK4, IMMP2L	Copy number loss	not provided	GUncertain significance
Select item 688081	GRCh37/hg19 7q31.1(chr7:111111987-111224159)x1	IMMP2L	Copy number loss	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686817	GRCh37/hg19 7q31.1(chr7:111022959-111294883)x1	IMMP2L	Copy number loss	not provided	GUncertain significance
Select item 686475	GRCh37/hg19 7q31.1(chr7:107786826-112356275)x1	DNAJB9, DOCK4 +9 more	Copy number loss	not provided	GUncertain significance
Select item 686057	GRCh37/hg19 7q31.1-31.31(chr7:107410314-117825549)x1	ASZ1, BMT2 +34 more	Copy number loss	not provided	GPathogenic
Select item 685749	GRCh37/hg19 7q31.1(chr7:110964443-111132612)x1	IMMP2L	Copy number loss	not provided	GUncertain significance
Select item 685274	GRCh37/hg19 7q31.1(chr7:111053988-111200668)x1	IMMP2L	Copy number loss	not provided	GUncertain significance
Select item 685213	GRCh37/hg19 7q31.1(chr7:111106542-111262151)x1	IMMP2L	Copy number loss	not provided	GUncertain significance
Select item 638112	GRCh37/hg19 7q31.1(chr7:110968770-111390462)x3	DOCK4, IMMP2L	Copy number gain	See cases	GUncertain significance
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563376	GRCh37/hg19 7q31.1(chr7:111069891-111778727)x3	DOCK4, IMMP2L	Copy number gain	not provided	GLikely benign
Select item 563364	GRCh37/hg19 7q31.1(chr7:111092450-111610938)x1	DOCK4, IMMP2L	Copy number loss	not provided	GLikely benign
Select item 559396	Single allele	IMMP2L, LOC129389845	Deletion	Moderate global developmental delay +1 more	GUncertain significance
Select item 545340	Single allele	DOCK4, DOCK4-AS1 +29 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 443447	GRCh37/hg19 7q31.1(chr7:111054068-111372900)x1	DOCK4, IMMP2L	Copy number loss	See cases	GUncertain significance
Select item 443343	GRCh37/hg19 7q31.1(chr7:110322161-112423237)x3	DOCK4, IFRD1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441550	GRCh37/hg19 7q31.1(chr7:110992183-111387739)x1	DOCK4, IMMP2L	Copy number loss	See cases	GUncertain significance
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395553	GRCh37/hg19 7q31.1(chr7:110674808-110839833)x1	IMMP2L, LRRN3	Copy number loss	See cases	GLikely benign
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 242956	NC_000007.13:g.109049659_111130658del	LRRN3, IMMP2L	Deletion	Childhood apraxia of speech	GPathogenic

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